Allele Registry

Canonical Allele Identifier: PA916031795

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000568261

RCV000688060

RCV003465219

ClinVar Variation:

482547

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Glu498Gln	CA382534210 NM_001351834.2:c.1492G>C